Search

Author/Creator Cavalieri, Simona

1. A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia. Issue 8 (7th June 2013)

Authors:
Di Gregorio, Eleonora; Bianchi, Federico T; Schiavi, Alfonso; Chiotto, Alessandra M A; Rolando, Marco; Verdun di Cantogno, Ludovica; Grosso, Enrico; Cavalieri, Simona; Calcia, Alessandro; Lacerenza, Daniela; Zuffardi, Orsetta; Retta, Saverio Francesco; Stevanin, Giovanni; Marelli, Cecilia; Durr, ...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 8(2013)
Page Start:
543
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity. Issue 2 (1st December 2015)

Authors:
Biamino, Elisa; Di Gregorio, Eleonora; Belligni, Elga Fabia; Keller, Roberto; Riberi, Evelise; Gandione, Marina; Calcia, Alessandro; Mancini, Cecilia; Giorgio, Elisa; Cavalieri, Simona; Pappi, Patrizia; Talarico, Flavia; Fea, Antonio M.; De Rubeis, Silvia; Cirillo Silengo, Margherita; Ferrero, Gi...
Journal:
American journal of medical genetics
Issue:
Volume 171:Issue 2(2016)
Page Start:
290
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT). Issue 10 (4th May 2017)

Authors:
Giorgio, Elisa; Vaula, Giovanna; Benna, Paolo; Lo Buono, Nicola; Eandi, Chiara Maria; Dino, Daniele; Mancini, Cecilia; Cavalieri, Simona; Di Gregorio, Eleonora; Pozzi, Elisa; Ferrero, Marta; Giordana, Maria Teresa; Depienne, Christel; Brusco, Alfredo
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 88:Issue 10(2017)
Page Start:
894
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Cover Image, Volume 170A, Number 7, July 2016. Issue 7 (17th June 2016)

Authors:
Giorgio, Elisa; Ciolfi, Andrea; Biamino, Elisa; Caputo, Viviana; Di Gregorio, Eleonora; Belligni, Elga Fabia; Calcia, Alessandro; Gaidolfi, Elena; Bruselles, Alessandro; Mancini, Cecilia; Cavalieri, Simona; Molinatto, Cristina; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Tartaglia, M...
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 7(2016)
Page Start:
i
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes. (May 2017)

Authors:
Giorgio, Elisa; Brussino, Alessandro; Biamino, Elisa; Belligni, Elga Fabia; Bruselles, Alessandro; Ciolfi, Andrea; Caputo, Viviana; Pizzi, Simone; Calcia, Alessandro; Di Gregorio, Eleonora; Cavalieri, Simona; Mancini, Cecilia; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Borelli, Iolanda; Amoro...
Journal:
European journal of paediatric neurology
Issue:
Volume 21:Number 3(2017:May)
Page Start:
475
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof‐of‐concept examples. Issue 7 (25th April 2016)

Authors:
Giorgio, Elisa; Ciolfi, Andrea; Biamino, Elisa; Caputo, Viviana; Di Gregorio, Eleonora; Belligni, Elga Fabia; Calcia, Alessandro; Gaidolfi, Elena; Bruselles, Alessandro; Mancini, Cecilia; Cavalieri, Simona; Molinatto, Cristina; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Tartaglia, M...
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 7(2016)
Page Start:
1772
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗